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  • Title: Huntington disease: no evidence for locus heterogeneity.
    Author: Conneally PM, Haines JL, Tanzi RE, Wexler NS, Penchaszadeh GK, Harper PS, Folstein SE, Cassiman JJ, Myers RH, Young AB.
    Journal: Genomics; 1989 Aug; 5(2):304-8. PubMed ID: 2571579.
    Abstract:
    A total of 63 families with Huntington disease (HD) were examined for linkage between HD and G8 (D4S10). The families included 57 Caucasian, four Black American, and two Japanese. The combined maximum lod score was 87.69 at theta = 0.04 (99% confidence interval 0.018-0.071). The maximum frequency of recombination was 0.03 in males and 0.05 in females. Fifty-seven families gave positive lod scores; five small families gave mildly negative lod scores. The maximum likelihood estimate of alpha, the proportion of linked loci, was 1.0 with a lower 99% confidence interval of 0.88. These data suggest that there is only one HD locus, although a second rare locus cannot be ruled out.
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